Variant report

Variant	rs505642
Chromosome Location	chr11:65956542-65956543
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:65949291..65953493-chr11:65956175..65959388,5	MCF-7	breast:
2	chr11:65955163..65956790-chr11:65961357..65963533,2	K562	blood:
3	chr11:65955717..65957980-chr11:65978681..65980223,2	MCF-7	breast:
4	chr11:65954321..65956732-chr11:65958143..65960901,2	MCF-7	breast:
5	chr11:65944269..65946953-chr11:65955648..65958595,2	MCF-7	breast:
6	chr11:65956435..65961151-chr11:65961394..65965581,4	K562	blood:
7	chr11:65955437..65957297-chr11:66137549..66140312,2	MCF-7	breast:
8	chr11:65837726..65839448-chr11:65956338..65958965,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000174669	Chromatin interaction
ENSG00000175115	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs1151532	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1190945	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1190946	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1191715	0.96[AFR][1000 genomes]
rs1203551	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1203552	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1203749	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1203750	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1203801	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1630638	0.96[AFR][1000 genomes]
rs1783562	0.92[AFR][1000 genomes]
rs1783732	1.00[YRI][hapmap]
rs2430981	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2452687	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3016315	0.85[AFR][1000 genomes]
rs3017606	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4523703	0.83[YRI][hapmap]
rs471709	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs472853	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs475817	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs477001	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs485547	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4930332	0.96[AFR][1000 genomes]
rs502898	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs504456	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs505412	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs510398	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs512316	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs515778	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs519911	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs527279	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs532265	0.86[AFR][1000 genomes]
rs541954	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs547282	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs547892	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs549228	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs551652	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs555527	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs555826	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs559298	1.00[YRI][hapmap]
rs560105	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs560983	0.83[AFR][1000 genomes]
rs561199	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs561869	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs567414	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs568423	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs571368	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs572697	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs577301	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs581247	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6591196	0.92[AFR][1000 genomes]
rs693382	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7934588	0.89[AFR][1000 genomes]
rs7947668	0.96[AFR][1000 genomes]
rs948358	1.00[YRI][hapmap]
rs948477	1.00[YRI][hapmap];0.96[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3335923	chr11:65741698-66175759	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
2	esv1819302	chr11:65787660-66007018	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
3	esv3407551	chr11:65794503-66158322	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
4	esv1804701	chr11:65922589-65957003	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	esv1813498	chr11:65922589-65957003	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	esv1806665	chr11:65933975-65957003	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	esv1809732	chr11:65934549-65956577	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65906000-65960200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr11:65927200-65958400	Weak transcription	Gastric	stomach
3	chr11:65928800-65957000	Weak transcription	Left Ventricle	heart
4	chr11:65929400-65960200	Weak transcription	HSMM	muscle
5	chr11:65929600-65977800	Weak transcription	HSMMtube	muscle
6	chr11:65930000-65960200	Weak transcription	Colon Smooth Muscle	Colon
7	chr11:65930000-65960800	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr11:65936400-65956800	Weak transcription	Fetal Intestine Small	intestine
9	chr11:65937400-65958200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr11:65938400-65978000	Weak transcription	Aorta	Aorta
11	chr11:65938600-65960800	Weak transcription	Dnd41	blood
12	chr11:65939400-65960200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr11:65940000-65958200	Weak transcription	Lung	lung
14	chr11:65940000-65978000	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr11:65940200-65960400	Weak transcription	Stomach Smooth Muscle	stomach
16	chr11:65940200-65960400	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr11:65940400-65978000	Weak transcription	Esophagus	oesophagus
18	chr11:65943200-65959600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr11:65944400-65977800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr11:65944600-65963600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr11:65947800-65961000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr11:65949800-65960400	Weak transcription	Liver	Liver
23	chr11:65949800-65977800	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr11:65950000-65959800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr11:65950200-65978400	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr11:65950600-65960400	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr11:65950800-65960200	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr11:65951200-65956800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr11:65951200-65959800	Weak transcription	Right Ventricle	heart
30	chr11:65951200-65960800	Weak transcription	Fetal Muscle Leg	muscle
31	chr11:65951200-65960800	Weak transcription	Ovary	ovary
32	chr11:65951200-65962800	Weak transcription	Brain Substantia Nigra	brain
33	chr11:65951400-65959600	Weak transcription	Brain Cingulate Gyrus	brain
34	chr11:65951400-65960000	Weak transcription	Spleen	Spleen
35	chr11:65951400-65960200	Weak transcription	Fetal Brain Male	brain
36	chr11:65951400-65960800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr11:65951400-65960800	Weak transcription	Fetal Muscle Trunk	muscle
38	chr11:65951600-65957000	Weak transcription	Pancreas	Pancrea
39	chr11:65951600-65959800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr11:65951600-65960400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr11:65951600-65960400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr11:65951600-65960600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr11:65951600-65960800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr11:65951600-65961000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr11:65951800-65960600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr11:65952200-65957200	Weak transcription	Fetal Heart	heart
47	chr11:65952200-65961800	Weak transcription	Brain Anterior Caudate	brain
48	chr11:65952200-65967400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr11:65952400-65960600	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr11:65952400-65967800	Weak transcription	Brain Germinal Matrix	brain

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